Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555548678 | 0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv | 7 | |||
rs893051 | 0.807 | 0.400 | 3 | 190321812 | intron variant | G/A;C | snv | 7 | |||
rs10249788 | 0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv | 6 | |||
rs1555549674 | 0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv | 6 | |||
rs1566446604 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 6 | |||
rs16903574 | 0.882 | 0.120 | 5 | 14610200 | missense variant | C/A;G | snv | 4.0E-06; 5.6E-02 | 6 | ||
rs886039903 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 6 | |||
rs150597413 | 0.827 | 0.160 | 1 | 152305146 | stop gained | G/A;C;T | snv | 3.6E-05; 4.0E-06; 1.5E-03 | 5 | ||
rs1554236040 | 0.882 | 0.320 | 6 | 157201464 | stop gained | C/T | snv | 5 | |||
rs941934 | 0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv | 5 | |||
rs121909626 | 0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 | 4 | ||
rs146466242 | 0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 | 4 | ||
rs1700159 | 1.000 | 0.040 | 12 | 51912002 | intron variant | C/A;G;T | snv | 4 | |||
rs1811069 | 1.000 | 0.040 | 22 | 21627765 | upstream gene variant | T/A;G | snv | 4 | |||
rs320995 | 0.851 | 0.240 | X | 78272820 | missense variant | G/A;C;T | snv | 0.73 | 4 | ||
rs334809 | 0.925 | 0.080 | 3 | 3088537 | intron variant | A/G;T | snv | 4 | |||
rs10791824 | 0.882 | 0.160 | 11 | 65791795 | intron variant | A/G;T | snv | 3 | |||
rs115746363 | 0.882 | 0.120 | 1 | 152312410 | stop gained | G/A;C | snv | 6.0E-04 | 3 | ||
rs1214598 | 0.925 | 0.120 | 1 | 167457187 | non coding transcript exon variant | G/A;C;T | snv | 3 | |||
rs13139310 | 0.925 | 0.120 | 4 | 184435757 | intron variant | G/A;C | snv | 3 | |||
rs149484917 | 0.882 | 0.120 | 1 | 152304939 | stop gained | G/C;T | snv | 4.7E-04; 4.0E-06 | 3 | ||
rs17389644 | 0.925 | 0.120 | 4 | 122576542 | intergenic variant | G/A;T | snv | 3 | |||
rs2303070 | 0.882 | 0.120 | 5 | 148120328 | missense variant | G/A;C;T | snv | 0.13 | 3 | ||
rs2390314 | 0.925 | 0.120 | 7 | 20416355 | downstream gene variant | A/C;T | snv | 3 | |||
rs360721 | 0.882 | 0.200 | 11 | 112155193 | intron variant | G/A;C | snv | 3 |